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GENATLAS PHENOTYPE

last update : 12-05-2015

Symbol	ARCL3B
Location	17q25.3
Name	cutis laxa, autosomal recessive, type IIIB
Other name(s)	De Barsy syndrome
Corresponding gene	PYCR1
Main clinical features	characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa wide fontanels, prominent forehead, fine and sparse hair, splayed eyebrows, sunken eyes, small palpebral fissures, hypertelorism, osteoporosis, mental retardation
Genetic determination	autosomal recessive
Function/system disorder	dermatology
Type	disease

Remark(s)